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X-linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease

Mattsson, PT; Vihinen, Mauno LU and Smith, CIE (1996) In BioEssays 18(10). p.825-834
Abstract
X-linked agammaglobulinemia is a heritable immunodeficiency disease caused by a differentiation abnormality, resulting in the virtual absence of B lymphocytes and plasma cells, The affected gene encodes a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine kinase, designated Btk, Btk and the other family members, Tec, Itk and Bmx, contain five regions, four of which are common structural and functional modules that are found in other signaling proteins. Mutations affect all domains of the gene, but amino acid substitutions seem to be confined to certain regions, More than 150 unique mutations have been identified and are collected in a mutation database, BTKbase. Here we discuss the three-dimensional structural... (More)
X-linked agammaglobulinemia is a heritable immunodeficiency disease caused by a differentiation abnormality, resulting in the virtual absence of B lymphocytes and plasma cells, The affected gene encodes a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine kinase, designated Btk, Btk and the other family members, Tec, Itk and Bmx, contain five regions, four of which are common structural and functional modules that are found in other signaling proteins. Mutations affect all domains of the gene, but amino acid substitutions seem to be confined to certain regions, More than 150 unique mutations have been identified and are collected in a mutation database, BTKbase. Here we discuss the three-dimensional structural implications of such mutations and their putative functional role. Of special interest are mutations affecting the pleckstrin homology domain, as Btk is the only disease-associated protein so far reported to carry mutations in this particular module. (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
BioEssays
volume
18
issue
10
pages
825 - 834
publisher
John Wiley & Sons
external identifiers
  • wos:A1996VN99400008
  • scopus:0030272507
ISSN
0265-9247
DOI
10.1002/bies.950181009
language
English
LU publication?
no
id
4fc46b03-972b-4e6e-8e0e-9d894cf060d4 (old id 3853058)
date added to LUP
2013-06-28 14:35:02
date last changed
2017-01-01 04:46:47
@article{4fc46b03-972b-4e6e-8e0e-9d894cf060d4,
  abstract     = {X-linked agammaglobulinemia is a heritable immunodeficiency disease caused by a differentiation abnormality, resulting in the virtual absence of B lymphocytes and plasma cells, The affected gene encodes a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine kinase, designated Btk, Btk and the other family members, Tec, Itk and Bmx, contain five regions, four of which are common structural and functional modules that are found in other signaling proteins. Mutations affect all domains of the gene, but amino acid substitutions seem to be confined to certain regions, More than 150 unique mutations have been identified and are collected in a mutation database, BTKbase. Here we discuss the three-dimensional structural implications of such mutations and their putative functional role. Of special interest are mutations affecting the pleckstrin homology domain, as Btk is the only disease-associated protein so far reported to carry mutations in this particular module.},
  author       = {Mattsson, PT and Vihinen, Mauno and Smith, CIE},
  issn         = {0265-9247},
  language     = {eng},
  number       = {10},
  pages        = {825--834},
  publisher    = {John Wiley & Sons},
  series       = {BioEssays},
  title        = {X-linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease},
  url          = {http://dx.doi.org/10.1002/bies.950181009},
  volume       = {18},
  year         = {1996},
}